Angkawipa Trongtorsak, Sittinun Thangjui, Pabitra Adhikari, Biraj Shrestha, Jakrin Kewcharoen, Leenhapong Navaravong, Somsupha Kanjanauthai, Steve Attanasio, Hammad A Saudye
Previous studies have demonstrated gender disparities in mortality and vascular complications after transcatheter aortic valve replacement (TAVR) with early generation transcatheter heart valves (THVs). It is unclear, however, whether gender-related differences persist with the newer generation THVs. We aim to assess gender disparities after TAVR with newer generation THVs. The MEDLINE and Embase databases were thoroughly searched from inception to April 2023 to identify studies that reported gender-specific outcomes after TAVR with newer generation THVs (Sapien 3, Corevalve Evolut R, and Evolut Pro). The outcomes of interest included 30-day mortality, 1-year mortality, and vascular complications. In total, 5 studies (4 databases) with a total of 47,933 patients (21,073 females and 26,860 males) were included. Ninety-six percent received TAVR via the transfemoral approach. The females had higher 30-day mortality rates (odds ratio (OR) = 1.53, 95% confidence interval (CI) 1.31-1.79, p-value (p) < 0.001) and vascular complications (OR = 1.43, 95% CI 1.23-1.65, p < 0.001). However, one-year mortality was similar between the two groups (OR = 0.78, 95% CI 0.61-1.00, p = 0.28). The female gender continues to be associated with higher 30-day mortality rates and vascular complications after TAVR with newer generation transcatheter heart valves, while there was no difference in 1-year mortality between the genders. More data is needed to explore the causes and whether we can improve TAVR outcomes in females.
先前的研究表明,经导管主动脉瓣置换术(TAVR)和早期经导管心脏瓣膜(thv)术后的死亡率和血管并发症存在性别差异。然而,目前尚不清楚,与性别相关的差异是否在新一代的thv中持续存在。我们的目的是评估新一代thv在TAVR后的性别差异。MEDLINE和Embase数据库从建立到2023年4月进行了全面检索,以确定报告使用新一代thv (Sapien 3、Corevalve Evolut R和Evolut Pro)进行TAVR后性别特异性结果的研究。研究结果包括30天死亡率、1年死亡率和血管并发症。共纳入5项研究(4个数据库),47,933例患者(女性21073例,男性26,860例)。96%的患者通过经股入路接受TAVR。女性患者的30天死亡率(优势比(OR) = 1.53, 95%可信区间(CI) 1.31-1.79, p值(p) < 0.001)和血管并发症(OR = 1.43, 95% CI 1.23-1.65, p < 0.001)较高。然而,两组一年死亡率相似(OR = 0.78, 95% CI 0.61-1.00, p = 0.28)。女性仍然与新一代经导管心脏瓣膜TAVR术后30天死亡率和血管并发症相关,而1年死亡率在性别之间没有差异。需要更多的数据来探索原因以及我们是否可以改善女性TAVR的结果。
{"title":"Gender Disparities after Transcatheter Aortic Valve Replacement with Newer Generation Transcatheter Heart Valves: A Systematic Review and Meta-Analysis.","authors":"Angkawipa Trongtorsak, Sittinun Thangjui, Pabitra Adhikari, Biraj Shrestha, Jakrin Kewcharoen, Leenhapong Navaravong, Somsupha Kanjanauthai, Steve Attanasio, Hammad A Saudye","doi":"10.3390/medsci11020033","DOIUrl":"https://doi.org/10.3390/medsci11020033","url":null,"abstract":"<p><p>Previous studies have demonstrated gender disparities in mortality and vascular complications after transcatheter aortic valve replacement (TAVR) with early generation transcatheter heart valves (THVs). It is unclear, however, whether gender-related differences persist with the newer generation THVs. We aim to assess gender disparities after TAVR with newer generation THVs. The MEDLINE and Embase databases were thoroughly searched from inception to April 2023 to identify studies that reported gender-specific outcomes after TAVR with newer generation THVs (Sapien 3, Corevalve Evolut R, and Evolut Pro). The outcomes of interest included 30-day mortality, 1-year mortality, and vascular complications. In total, 5 studies (4 databases) with a total of 47,933 patients (21,073 females and 26,860 males) were included. Ninety-six percent received TAVR via the transfemoral approach. The females had higher 30-day mortality rates (odds ratio (OR) = 1.53, 95% confidence interval (CI) 1.31-1.79, <i>p</i>-value (<i>p</i>) < 0.001) and vascular complications (OR = 1.43, 95% CI 1.23-1.65, <i>p</i> < 0.001). However, one-year mortality was similar between the two groups (OR = 0.78, 95% CI 0.61-1.00, <i>p</i> = 0.28). The female gender continues to be associated with higher 30-day mortality rates and vascular complications after TAVR with newer generation transcatheter heart valves, while there was no difference in 1-year mortality between the genders. More data is needed to explore the causes and whether we can improve TAVR outcomes in females.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"11 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10204443/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9508988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ayrton Bangolo, Pierre Fwelo, Sowmya Sagireddy, Harin Shah, Chinmay Trivedi, John Bukasa-Kakamba, Rutvij Patel, Luke Bharane, Manraj K Randhawa, Vignesh K Nagesh, Shraboni Dey, Hannah Terefe, Gagan Kaur, Nicholas Dinko, Fatma Lina Emiroglu, Ahmed Mohamed, Mark A Fallorina, David Kosoy, Danish Waqar, Ankita Shenoy, Kareem Ahmed, Anvit Nanavati, Amritpal Singh, Anthony Willie, Diego M C Gonzalez, Deblina Mukherjee, Jayadev Sajja, Tracy Proverbs-Singh, Sameh Elias, Simcha Weissman
Background: Primary malignant melanomas of the Gastrointestinal mucosa are uncommon. Most cases of gastrointestinal (GI) melanomas are secondary, arising from metastasis at distant sites. The purpose of this study is to assess to what extent the interaction between independent prognostic factors (age and tumor site) of primary GI melanoma influence survival. Furthermore, we also aimed to investigate the clinical characteristics, survival outcomes, and independent prognostic factors of patients with primary GI melanoma in the past decade.
Methods: A total of 399 patients diagnosed with primary GI melanoma, between 2008 and 2017, were enrolled in our study by retrieving data from the Surveillance, Epidemiology, and End Results (SEER) database. We analyzed demographics, clinical characteristics, and overall mortality (OM) as well as cancer-specific mortality (CSM) of primary GI melanoma. Variables with a p value < 0.1 in the univariate Cox regression were incorporated into the multivariate Cox model (model 1) to determine the independent prognostic factors, with a hazard ratio (HR) of greater than 1 representing adverse prognostic factors. Furthermore, we analyzed the effect of the interaction between age and primary location on mortality (model 2).
Results: Multivariate cox proportional hazard regression analyses revealed higher OM in age group 80+ (HR = 5.653, 95% CI 2.212-14.445, p = 0), stomach location of the tumor (HR = 2.821, 95% CI 1.265-6.292, p = 0.011), regional lymph node involvement only (HR = 1.664, 95% CI 1.051-2.635, p < 0.05), regional involvement by both direct extension and lymph node involvement (HR = 1.755, 95% CI 1.047-2.943, p < 0.05) and distant metastases (HR = 4.491, 95% CI 3.115-6.476, p = 0), whereas the lowest OM was observed in patients with small intestine melanoma (HR = 0.383, 95% CI 0.173-0.846, p < 0.05). Multivariate cox proportional hazard regression analyses of CSM also revealed higher mortality of the same groups and lower CSM in small intestine and colon melanoma excluding the rectum. For model 2, considering the interaction between age and primary site on mortality, higher OM was found in age group 80+, followed by age group 40-59 then age group 60-79, regional lymph node involvement only, regional involvement by both direct extension and lymph node involvement and distant metastases. The small intestine had a lower OM. The rectum as primary location and the age range 40-59 interacted to lower the OM (HR = 0.14, 95% CI 0.02-0.89, p = 0.038). Age and primary gastric location did not interact to affect the OM. For the CSM, taking into account the interaction between age and the primary location, higher mortality was found in the same groups and the colon location. The primary colon location also interacted with the age group 40-59 to increase the CSM (HR = 1.38 × 109, 95% CI 7.80 ×
背景:胃肠道黏膜的原发性恶性黑色素瘤并不常见。大多数胃肠道(GI)黑色素瘤是继发性的,由远处转移引起。本研究的目的是评估原发性胃肠道黑色素瘤的独立预后因素(年龄和肿瘤部位)之间的相互作用在多大程度上影响生存。此外,我们还旨在调查过去十年原发性胃肠道黑色素瘤患者的临床特征、生存结局和独立预后因素。方法:通过从监测、流行病学和最终结果(SEER)数据库中检索数据,在2008年至2017年期间,共有399名被诊断为原发性胃肠道黑色素瘤的患者加入了我们的研究。我们分析了原发性胃肠道黑色素瘤的人口统计学、临床特征、总死亡率(OM)以及癌症特异性死亡率(CSM)。将单因素Cox回归中p值< 0.1的变量纳入多因素Cox模型(模型1),确定独立预后因素,风险比(HR)大于1为不良预后因素。此外,我们分析了年龄和原籍地之间的交互作用对死亡率的影响(模型2)。多变量cox比例风险回归分析显示更高的OM年龄组80 + (HR = 5.653, 95% CI 2.212 - -14.445, p = 0),胃肿瘤的位置(HR = 2.821, 95% CI 1.265 - -6.292, p = 0.011),区域淋巴结(HR = 1.664, 95% CI 1.051 - -2.635, p < 0.05),区域参与直接扩展和淋巴结(HR = 1.755, 95% CI 1.047 - -2.943, p < 0.05)和远处转移(HR = 4.491, 95% CI 3.115 - -6.476, p = 0),小肠黑色素瘤患者OM最低(HR = 0.383, 95% CI 0.173 ~ 0.846, p < 0.05)。CSM的多因素cox比例风险回归分析也显示,除直肠外,小肠和结肠黑色素瘤组的死亡率较高,CSM较低。对于模型2,考虑到年龄和原发部位对死亡率的相互作用,80+年龄组的OM较高,其次是40-59年龄组,然后是60-79年龄组,仅局部淋巴结受累,直接延伸和淋巴结受累以及远处转移的区域受累。小肠的OM较低。直肠作为主要部位和年龄范围40-59相互作用可降低OM (HR = 0.14, 95% CI 0.02-0.89, p = 0.038)。年龄和胃原发位置没有相互作用影响OM。对于CSM,考虑到年龄和原发位置之间的相互作用,同一组和结肠位置的死亡率更高。原发结肠位置也与40-59岁年龄组相互作用,增加CSM (HR = 1.38 × 109, 95% CI 7.80 × 107-2.45 × 1010, p = 0)。结论:在这项使用SEER数据库的基于美国人群的回顾性队列研究中,我们发现只有40-59岁年龄组与直肠和结肠相互作用,分别降低和增加死亡率。胃原发部位是影响死亡率的最重要的单一部位,与任何年龄范围都没有相互作用来影响死亡率。有了这些结果,我们希望对这种预后非常糟糕的罕见病理有一些了解。
{"title":"Interaction between Age and Primary Site on Survival Outcomes in Primary GI Melanoma over the Past Decade.","authors":"Ayrton Bangolo, Pierre Fwelo, Sowmya Sagireddy, Harin Shah, Chinmay Trivedi, John Bukasa-Kakamba, Rutvij Patel, Luke Bharane, Manraj K Randhawa, Vignesh K Nagesh, Shraboni Dey, Hannah Terefe, Gagan Kaur, Nicholas Dinko, Fatma Lina Emiroglu, Ahmed Mohamed, Mark A Fallorina, David Kosoy, Danish Waqar, Ankita Shenoy, Kareem Ahmed, Anvit Nanavati, Amritpal Singh, Anthony Willie, Diego M C Gonzalez, Deblina Mukherjee, Jayadev Sajja, Tracy Proverbs-Singh, Sameh Elias, Simcha Weissman","doi":"10.3390/medsci11020032","DOIUrl":"https://doi.org/10.3390/medsci11020032","url":null,"abstract":"<p><strong>Background: </strong>Primary malignant melanomas of the Gastrointestinal mucosa are uncommon. Most cases of gastrointestinal (GI) melanomas are secondary, arising from metastasis at distant sites. The purpose of this study is to assess to what extent the interaction between independent prognostic factors (age and tumor site) of primary GI melanoma influence survival. Furthermore, we also aimed to investigate the clinical characteristics, survival outcomes, and independent prognostic factors of patients with primary GI melanoma in the past decade.</p><p><strong>Methods: </strong>A total of 399 patients diagnosed with primary GI melanoma, between 2008 and 2017, were enrolled in our study by retrieving data from the Surveillance, Epidemiology, and End Results (SEER) database. We analyzed demographics, clinical characteristics, and overall mortality (OM) as well as cancer-specific mortality (CSM) of primary GI melanoma. Variables with a <i>p</i> value < 0.1 in the univariate Cox regression were incorporated into the multivariate Cox model (model 1) to determine the independent prognostic factors, with a hazard ratio (HR) of greater than 1 representing adverse prognostic factors. Furthermore, we analyzed the effect of the interaction between age and primary location on mortality (model 2).</p><p><strong>Results: </strong>Multivariate cox proportional hazard regression analyses revealed higher OM in age group 80+ (HR = 5.653, 95% CI 2.212-14.445, <i>p</i> = 0), stomach location of the tumor (HR = 2.821, 95% CI 1.265-6.292, <i>p</i> = 0.011), regional lymph node involvement only (HR = 1.664, 95% CI 1.051-2.635, <i>p</i> < 0.05), regional involvement by both direct extension and lymph node involvement (HR = 1.755, 95% CI 1.047-2.943, <i>p</i> < 0.05) and distant metastases (HR = 4.491, 95% CI 3.115-6.476, <i>p</i> = 0), whereas the lowest OM was observed in patients with small intestine melanoma (HR = 0.383, 95% CI 0.173-0.846, <i>p</i> < 0.05). Multivariate cox proportional hazard regression analyses of CSM also revealed higher mortality of the same groups and lower CSM in small intestine and colon melanoma excluding the rectum. For model 2, considering the interaction between age and primary site on mortality, higher OM was found in age group 80+, followed by age group 40-59 then age group 60-79, regional lymph node involvement only, regional involvement by both direct extension and lymph node involvement and distant metastases. The small intestine had a lower OM. The rectum as primary location and the age range 40-59 interacted to lower the OM (HR = 0.14, 95% CI 0.02-0.89, <i>p</i> = 0.038). Age and primary gastric location did not interact to affect the OM. For the CSM, taking into account the interaction between age and the primary location, higher mortality was found in the same groups and the colon location. The primary colon location also interacted with the age group 40-59 to increase the CSM (HR = 1.38 × 10<sup>9</sup>, 95% CI 7.80 ×","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"11 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10204572/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9516153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ari Matsumoto, Miki Hiroi, Kazumasa Mori, Nobuharu Yamamoto, Yoshihiro Ohmori
Chemokines are a group of cytokines involved in the mobilization of leukocytes, which play a role in host defense and a variety of pathological conditions, including cancer. Interferon (IFN)-inducible chemokines C-X-C motif ligand 9 (CXCL), CXCL10, and CXCL11 are anti-tumor chemokines; however, the differential anti-tumor effects of IFN-inducible chemokines are not completely understood. In this study, we investigated the anti-tumor effects of IFN-inducible chemokines by transferring chemokine expression vectors into a mouse squamous cell carcinoma cell line, SCCVII, to generate a cell line stably expressing chemokines and transplanted it into nude mice. The results showed that CXCL9- and CXCL11-expressing cells markedly inhibited tumor growth, whereas CXCL10-expressing cells did not inhibit growth. The NH2-terminal amino acid sequence of mouse CXCL10 contains a cleavage sequence by dipeptidyl peptidase 4 (DPP4), an enzyme that cleaves the peptide chain of chemokines. IHC staining indicated DPP4 expression in the stromal tissue, suggesting CXCL10 inactivation. These results suggest that the anti-tumor effects of IFN-inducible chemokines are affected by the expression of chemokine-cleaving enzymes in tumor tissues.
{"title":"Differential Anti-Tumor Effects of IFN-Inducible Chemokines CXCL9, CXCL10, and CXCL11 on a Mouse Squamous Cell Carcinoma Cell Line.","authors":"Ari Matsumoto, Miki Hiroi, Kazumasa Mori, Nobuharu Yamamoto, Yoshihiro Ohmori","doi":"10.3390/medsci11020031","DOIUrl":"https://doi.org/10.3390/medsci11020031","url":null,"abstract":"<p><p>Chemokines are a group of cytokines involved in the mobilization of leukocytes, which play a role in host defense and a variety of pathological conditions, including cancer. Interferon (IFN)-inducible chemokines C-X-C motif ligand 9 (CXCL), CXCL10, and CXCL11 are anti-tumor chemokines; however, the differential anti-tumor effects of IFN-inducible chemokines are not completely understood. In this study, we investigated the anti-tumor effects of IFN-inducible chemokines by transferring chemokine expression vectors into a mouse squamous cell carcinoma cell line, SCCVII, to generate a cell line stably expressing chemokines and transplanted it into nude mice. The results showed that CXCL9- and CXCL11-expressing cells markedly inhibited tumor growth, whereas CXCL10-expressing cells did not inhibit growth. The NH<sub>2</sub>-terminal amino acid sequence of mouse CXCL10 contains a cleavage sequence by dipeptidyl peptidase 4 (DPP4), an enzyme that cleaves the peptide chain of chemokines. IHC staining indicated DPP4 expression in the stromal tissue, suggesting CXCL10 inactivation. These results suggest that the anti-tumor effects of IFN-inducible chemokines are affected by the expression of chemokine-cleaving enzymes in tumor tissues.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"11 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10204432/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9516160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Panagiota Anna Chousou, Rahul Chattopadhyay, Vasiliki Tsampasian, Vassilios S Vassiliou, Peter John Pugh
Background: Atrial fibrillation (AF) is the most common pathological arrhythmia, and its complications lead to significant morbidity and mortality. However, patients with AF can often go undetected, especially if they are asymptomatic or have a low burden of paroxysms. Identification of those at high risk of AF development may help refine screening and management strategies.
Methods: PubMed and Embase databases were systematically searched for studies looking at electrocardiographic predictors of AF from inception to August 2021.
Results: A total of 115 studies were reported which examined a combination of atrial and ventricular parameters that could be electrocardiographic predictors of AF. Atrial predictors include conduction parameters, such as the PR interval, p-wave index and dispersion, and partial interatrial or advanced interatrial block, or morphological parameters, such as p-wave axis, amplitude and terminal force. Ventricular predictors include abnormalities in QRS amplitude, morphology or duration, QT interval duration, r-wave progression and ST segment, i.e., t-wave abnormalities.
Conclusions: There has been significant interest in electrocardiographic prediction of AF, especially in populations at high risk of atrial AF, such as those with an embolic stroke of undetermined source. This review highlights the breadth of possible predictive parameters, and possible pathological bases for the predictive role of each parameter are proposed.
{"title":"Electrocardiographic Predictors of Atrial Fibrillation.","authors":"Panagiota Anna Chousou, Rahul Chattopadhyay, Vasiliki Tsampasian, Vassilios S Vassiliou, Peter John Pugh","doi":"10.3390/medsci11020030","DOIUrl":"https://doi.org/10.3390/medsci11020030","url":null,"abstract":"<p><strong>Background: </strong>Atrial fibrillation (AF) is the most common pathological arrhythmia, and its complications lead to significant morbidity and mortality. However, patients with AF can often go undetected, especially if they are asymptomatic or have a low burden of paroxysms. Identification of those at high risk of AF development may help refine screening and management strategies.</p><p><strong>Methods: </strong>PubMed and Embase databases were systematically searched for studies looking at electrocardiographic predictors of AF from inception to August 2021.</p><p><strong>Results: </strong>A total of 115 studies were reported which examined a combination of atrial and ventricular parameters that could be electrocardiographic predictors of AF. Atrial predictors include conduction parameters, such as the PR interval, p-wave index and dispersion, and partial interatrial or advanced interatrial block, or morphological parameters, such as p-wave axis, amplitude and terminal force. Ventricular predictors include abnormalities in QRS amplitude, morphology or duration, QT interval duration, r-wave progression and ST segment, i.e., t-wave abnormalities.</p><p><strong>Conclusions: </strong>There has been significant interest in electrocardiographic prediction of AF, especially in populations at high risk of atrial AF, such as those with an embolic stroke of undetermined source. This review highlights the breadth of possible predictive parameters, and possible pathological bases for the predictive role of each parameter are proposed.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"11 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10123668/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9450134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Julianne Michael, Elizabeth VanSickle, Marlie Vipond, Abby Dalman, Jeremy Prokop, Charles E Schwartz, Surender Rajasekaran, André S Bachmann, Magalie Barth, Clément Prouteau, Yotam Almagor, Lina Berkun, Gheona Alterescu, Caleb P Bupp
Recent identification of four additional polyaminopathies, including Bachmann–Bupp syndrome, have benefited from previous research on Snyder–Robinson syndrome in order to advance from research to treatment more quickly. As a result of the discovery of these conditions, the potential for treatment within this pathway, and for other possible unidentified polyaminopathies, the International Center for Polyamine Disorders (ICPD) was created to help promote understanding of these conditions, research opportunities, and appropriate care for families. This case study provides insights from two new patients diagnosed with Bachmann–Bupp syndrome, further expanding our understanding of this ultra-rare condition, as well as a general discussion about other known polyaminopathies. This work also presents considerations for collaborative research efforts across these conditions, along with others that are likely to be identified in time, and outlines the role that the ICPD hopes to fill as more patients with these polyaminopathies continue to be identified and diagnosed.
{"title":"Two New Cases of Bachmann-Bupp Syndrome Identified through the International Center for Polyamine Disorders.","authors":"Julianne Michael, Elizabeth VanSickle, Marlie Vipond, Abby Dalman, Jeremy Prokop, Charles E Schwartz, Surender Rajasekaran, André S Bachmann, Magalie Barth, Clément Prouteau, Yotam Almagor, Lina Berkun, Gheona Alterescu, Caleb P Bupp","doi":"10.3390/medsci11020029","DOIUrl":"10.3390/medsci11020029","url":null,"abstract":"Recent identification of four additional polyaminopathies, including Bachmann–Bupp syndrome, have benefited from previous research on Snyder–Robinson syndrome in order to advance from research to treatment more quickly. As a result of the discovery of these conditions, the potential for treatment within this pathway, and for other possible unidentified polyaminopathies, the International Center for Polyamine Disorders (ICPD) was created to help promote understanding of these conditions, research opportunities, and appropriate care for families. This case study provides insights from two new patients diagnosed with Bachmann–Bupp syndrome, further expanding our understanding of this ultra-rare condition, as well as a general discussion about other known polyaminopathies. This work also presents considerations for collaborative research efforts across these conditions, along with others that are likely to be identified in time, and outlines the role that the ICPD hopes to fill as more patients with these polyaminopathies continue to be identified and diagnosed.","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"11 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10123676/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9742694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Antimicrobial drug resistance in Neisseria gonorrhoeae has been documented all over the world. However, the situation in Sub-Saharan Africa has received little attention. It is critical to establish diagnostics and extend surveillance in order to prevent the emergence of illnesses that are resistant to several treatments. Monitoring antimicrobial susceptibility is critically required in order to gather data that may be utilised to produce treatment recommendations that will result in effective therapy, a decrease in gonorrhoeae-related difficulties and transmission, and effective therapy. Government authorities may set research and preventive objectives, as well as treatment recommendations, using data from the Gonococcal Antimicrobial Surveillance Program (GISP). Local and state health authorities may use GISP data to make choices about the allocation of STI prevention services and resources, to guide preventative planning, and to disseminate information about the most successful treatment practices. Using molecular and culture approaches, we investigated the occurrence of antibiotic resistance in isolates from KwaZulu Natal, South Africa. The great majority of gonococcal isolates (48% showed absolute resistance to ciprofloxacin), with penicillin and tetracycline resistance rates of 14% each. Only one of the gonococcal isolates tested positive for azithromycin resistance, with a minimum inhibitory concentration (MIC) of 1.5 µg/mL. Ceftriaxone was effective against all gonococcal isolates tested.
{"title":"Identification of Emerging Multidrug-Resistant <i>Neisseria gonorrhoeae</i> Isolates against Five Major Antimicrobial Agent Options.","authors":"Sinethemba Hopewell Yakobi, Ofentse Jacob Pooe","doi":"10.3390/medsci11020028","DOIUrl":"https://doi.org/10.3390/medsci11020028","url":null,"abstract":"Antimicrobial drug resistance in Neisseria gonorrhoeae has been documented all over the world. However, the situation in Sub-Saharan Africa has received little attention. It is critical to establish diagnostics and extend surveillance in order to prevent the emergence of illnesses that are resistant to several treatments. Monitoring antimicrobial susceptibility is critically required in order to gather data that may be utilised to produce treatment recommendations that will result in effective therapy, a decrease in gonorrhoeae-related difficulties and transmission, and effective therapy. Government authorities may set research and preventive objectives, as well as treatment recommendations, using data from the Gonococcal Antimicrobial Surveillance Program (GISP). Local and state health authorities may use GISP data to make choices about the allocation of STI prevention services and resources, to guide preventative planning, and to disseminate information about the most successful treatment practices. Using molecular and culture approaches, we investigated the occurrence of antibiotic resistance in isolates from KwaZulu Natal, South Africa. The great majority of gonococcal isolates (48% showed absolute resistance to ciprofloxacin), with penicillin and tetracycline resistance rates of 14% each. Only one of the gonococcal isolates tested positive for azithromycin resistance, with a minimum inhibitory concentration (MIC) of 1.5 µg/mL. Ceftriaxone was effective against all gonococcal isolates tested.","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"11 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10123641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9742696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Echocardiography is the gold standard clinical tool for the evaluation of left ventricular diastolic dysfunction (LVDD) and is used to validate other cardiac imaging modalities in measuring diastolic dysfunction. We examined Cardiac Magnetic Resonance Imaging (CMR) in detecting diastolic dysfunction using the time-volume curve-derived parameters compared to echocardiographic diastolic parameters. We evaluated patients who underwent both CMR and transthoracic echocardiography (TTE) within 2 ± 1 weeks of each other. On echo, Doppler/Tissue Doppler Imaging (TDI) measurements were obtained. On CMR, peak filling rate (PFR), time to PFR (TPFR), 1/3 filling fraction (1/3FF), and 1/3 filling rate (1/3FR) were calculated from the time-volume curve. Using the commonly employed E/A ratio, 44.4% of patients were found to have LVDD. Using septal E/E' and lateral E/E', 29.6% and 48.1% of patients had LVDD, respectively. Correlation was found between left atrial (LA) size and E/A ratio (R = -0.36). Using LVDD criteria for CMR, 63% of patients had diastolic dysfunction. CMR predicted LVDD in 66.7% of the cases. CMR-derived diastolic filling parameters provided a relatively easy and promising method for the assessment of LVDD and can predict the presence of LVDD as assessed by traditional Doppler and TDI methods.
{"title":"The Clinical Role of Cardiovascular Magnetic Resonance Imaging in the Assessment of Cardiac Diastolic Dysfunction.","authors":"Sabreen Bhuiya, Tanzim Bhuiya, Amgad N Makaryus","doi":"10.3390/medsci11020027","DOIUrl":"https://doi.org/10.3390/medsci11020027","url":null,"abstract":"<p><p>Echocardiography is the gold standard clinical tool for the evaluation of left ventricular diastolic dysfunction (LVDD) and is used to validate other cardiac imaging modalities in measuring diastolic dysfunction. We examined Cardiac Magnetic Resonance Imaging (CMR) in detecting diastolic dysfunction using the time-volume curve-derived parameters compared to echocardiographic diastolic parameters. We evaluated patients who underwent both CMR and transthoracic echocardiography (TTE) within 2 ± 1 weeks of each other. On echo, Doppler/Tissue Doppler Imaging (TDI) measurements were obtained. On CMR, peak filling rate (PFR), time to PFR (TPFR), 1/3 filling fraction (1/3FF), and 1/3 filling rate (1/3FR) were calculated from the time-volume curve. Using the commonly employed E/A ratio, 44.4% of patients were found to have LVDD. Using septal E/E' and lateral E/E', 29.6% and 48.1% of patients had LVDD, respectively. Correlation was found between left atrial (LA) size and E/A ratio (R = -0.36). Using LVDD criteria for CMR, 63% of patients had diastolic dysfunction. CMR predicted LVDD in 66.7% of the cases. CMR-derived diastolic filling parameters provided a relatively easy and promising method for the assessment of LVDD and can predict the presence of LVDD as assessed by traditional Doppler and TDI methods.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"11 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10123716/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9446328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Melissa Mello Mazepa, Marina Alessandra Pereira, Arthur Youssif Mota Arabi, André Roncon Dias, Ulysses Ribeiro, Bruno Zilberstein, Luiz Augusto Carneiro D'Albuquerque, Marcus Fernando Kodama Pertille Ramos
Background: Gastroduodenal perforation stands out as one of the complications in cancer patients. Despite its high mortality, its characteristics are still poorly described. This study aimed to evaluate the characteristics and outcomes of cancer patients who had gastroduodenal perforation, and the influence of chemotherapy (CMT) in these cases.
Method: A retrospective analysis of patients who underwent emergency surgery with an intraoperative finding of gastroduodenal perforation. Patients who performed CMT within 60 days before perforation were considered as the CMT group.
Results: Among 45 patients included, 16 (35.5%) were classified as the CMT group and the remaining 29 (64.5%) patients as the non-CMT group. There was no difference between the groups regarding sex, age, BMI, comorbidity, and laboratory exams. ECOG 2-3 was significantly more frequent in the CMT group (68.8% vs. 34.5% p = 0.027). Major postoperative complications were similar between both groups (75% vs. 58.6%, p = 0.272). The sepsis of abdominal focus was the main postoperative complication. The 30-day mortality was 55.6%, with no difference between non-CMT and CMT groups (62.5% vs. 51.7%, respectively; p = 0.486). A multivariate analysis of risk factors showed that only an age of ≥65 years was related to 30-day mortality.
Conclusions: Patients with gastroduodenal perforation and oncologic treatment present high mortality, regardless of receiving recent CMT.
背景:胃十二指肠穿孔是肿瘤患者常见的并发症之一。尽管其死亡率很高,但其特征仍然缺乏描述。本研究旨在评估胃十二指肠穿孔的癌症患者的特点和预后,以及化疗(CMT)对这些病例的影响。方法:回顾性分析术中发现胃十二指肠穿孔的急诊手术患者。在穿孔前60天内行CMT的患者被视为CMT组。结果:纳入的45例患者中,CMT组16例(35.5%),非CMT组29例(64.5%)。两组之间在性别、年龄、BMI、合并症和实验室检查方面没有差异。ECOG 2-3在CMT组更常见(68.8% vs. 34.5% p = 0.027)。两组术后主要并发症相似(75% vs. 58.6%, p = 0.272)。腹部病灶败血症是术后主要并发症。30天死亡率为55.6%,非CMT组和CMT组之间无差异(分别为62.5%和51.7%;P = 0.486)。危险因素的多因素分析显示,只有年龄≥65岁与30天死亡率相关。结论:无论近期是否接受过CMT治疗,胃十二指肠穿孔和肿瘤治疗的患者死亡率都很高。
{"title":"Gastroduodenal Perforation in Cancer Patients: Association with Chemotherapy and Prognosis.","authors":"Melissa Mello Mazepa, Marina Alessandra Pereira, Arthur Youssif Mota Arabi, André Roncon Dias, Ulysses Ribeiro, Bruno Zilberstein, Luiz Augusto Carneiro D'Albuquerque, Marcus Fernando Kodama Pertille Ramos","doi":"10.3390/medsci11020026","DOIUrl":"https://doi.org/10.3390/medsci11020026","url":null,"abstract":"<p><strong>Background: </strong>Gastroduodenal perforation stands out as one of the complications in cancer patients. Despite its high mortality, its characteristics are still poorly described. This study aimed to evaluate the characteristics and outcomes of cancer patients who had gastroduodenal perforation, and the influence of chemotherapy (CMT) in these cases.</p><p><strong>Method: </strong>A retrospective analysis of patients who underwent emergency surgery with an intraoperative finding of gastroduodenal perforation. Patients who performed CMT within 60 days before perforation were considered as the CMT group.</p><p><strong>Results: </strong>Among 45 patients included, 16 (35.5%) were classified as the CMT group and the remaining 29 (64.5%) patients as the non-CMT group. There was no difference between the groups regarding sex, age, BMI, comorbidity, and laboratory exams. ECOG 2-3 was significantly more frequent in the CMT group (68.8% vs. 34.5% <i>p</i> = 0.027). Major postoperative complications were similar between both groups (75% vs. 58.6%, <i>p</i> = 0.272). The sepsis of abdominal focus was the main postoperative complication. The 30-day mortality was 55.6%, with no difference between non-CMT and CMT groups (62.5% vs. 51.7%, respectively; <i>p</i> = 0.486). A multivariate analysis of risk factors showed that only an age of ≥65 years was related to 30-day mortality.</p><p><strong>Conclusions: </strong>Patients with gastroduodenal perforation and oncologic treatment present high mortality, regardless of receiving recent CMT.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"11 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10123675/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9742697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marta Tarczyńska, Mateusz Szubstarski, Krzysztof Gawęda, Piotr Przybylski, Elżbieta Czekajska-Chehab
The aim of the present study was to compare repaired Achilles tendon (AT) remodelling, whether its function was restored and what effects the surgery had on our patients' gait cycle in a long-term follow-up study. The study population comprised 30 human subjects treated acutely and chronically for AT ruptures, using the same surgical technique in all cases. The study group was divided into two subgroups regarding the age of their AT injury, i.e., how much time elapsed between the injury and when a correct diagnosis was made and when adequate treatment was applied. Following these criteria, persons presenting at less than 4 weeks postinjury were classified as acute rupture (AR) patients and those presenting at more than 4 weeks after injury were grouped as chronic rupture (CR) patients. Both patient groups were operated on using a surgical method favoured at least a decade ago, i.e., open repair through a posteromedial approach. The AT was augmented with a plantaris longus tendon autograft, followed by suturing using the pull-out suture technique. The results were measured using clinical, ultrasonographic (US) and pedobarographic methods. Our ultrasonographic and pedobarographic findings revealed differences between both patient groups, thus indicating that delayed surgery had negative impacts on treatment success, however, with good long-term functional score outcomes in both patient groups. Nevertheless, delayed treatment of AT ruptures did not leave individual gait phases unaffected, as it also affected the plantar surface and balance performance of the affected limb. As per the results, the Achilles tendon manifested decreased capacity following delayed treatment; however, its long-term functional outcomes were favourable, irrespective of whether it was for acute or chronic patients.
{"title":"Outcomes of Open Repair Treatment for Acute Versus Chronic Achilles Tendon Ruptures: Long-Term Retrospective Follow-Up of a Minimum 10 Years-A Pilot Study.","authors":"Marta Tarczyńska, Mateusz Szubstarski, Krzysztof Gawęda, Piotr Przybylski, Elżbieta Czekajska-Chehab","doi":"10.3390/medsci11020025","DOIUrl":"https://doi.org/10.3390/medsci11020025","url":null,"abstract":"<p><p>The aim of the present study was to compare repaired Achilles tendon (AT) remodelling, whether its function was restored and what effects the surgery had on our patients' gait cycle in a long-term follow-up study. The study population comprised 30 human subjects treated acutely and chronically for AT ruptures, using the same surgical technique in all cases. The study group was divided into two subgroups regarding the age of their AT injury, i.e., how much time elapsed between the injury and when a correct diagnosis was made and when adequate treatment was applied. Following these criteria, persons presenting at less than 4 weeks postinjury were classified as acute rupture (AR) patients and those presenting at more than 4 weeks after injury were grouped as chronic rupture (CR) patients. Both patient groups were operated on using a surgical method favoured at least a decade ago, i.e., open repair through a posteromedial approach. The AT was augmented with a plantaris longus tendon autograft, followed by suturing using the pull-out suture technique. The results were measured using clinical, ultrasonographic (US) and pedobarographic methods. Our ultrasonographic and pedobarographic findings revealed differences between both patient groups, thus indicating that delayed surgery had negative impacts on treatment success, however, with good long-term functional score outcomes in both patient groups. Nevertheless, delayed treatment of AT ruptures did not leave individual gait phases unaffected, as it also affected the plantar surface and balance performance of the affected limb. As per the results, the Achilles tendon manifested decreased capacity following delayed treatment; however, its long-term functional outcomes were favourable, irrespective of whether it was for acute or chronic patients.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"11 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10123621/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9742695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bhavesh H Patel, Kathryn H Melamed, Holly Wilhalme, Gwenyth L Day, Tisha Wang, Joseph DiNorcia, Douglas Farmer, Vatche Agopian, Fady Kaldas, Igor Barjaktarevic
Persistent pleural effusions (PPEf) represent a known complication of orthotopic liver transplant (OLT). However, their clinical relevance is not well described. We evaluated the clinical, biochemical, and cellular characteristics of post-OLT PPEf and assessed their relationship with longitudinal outcomes. We performed a retrospective cohort study of OLT recipients between 2006 and 2015. Included patients had post-OLT PPEf, defined by effusion persisting >30 days after OLT and available pleural fluid analysis. PPEf were classified as transudates or exudates (ExudLight) by Light's criteria. Exudates were subclassified as those with elevated lactate dehydrogenase (ExudLDH) or elevated protein (ExudProt). Cellular composition was classified as neutrophil- or lymphocyte-predominant. Of 1602 OLT patients, 124 (7.7%) had PPEf, of which 90.2% were ExudLight. Compared to all OLT recipients, PPEf patients had lower two-year survival (HR 1.63; p = 0.002). Among PPEf patients, one-year mortality was associated with pleural fluid RBC count (p = 0.03). While ExudLight and ExudProt showed no association with outcomes, ExudLDH were associated with increased ventilator dependence (p = 0.03) and postoperative length of stay (p = 0.03). Neutrophil-predominant effusions were associated with increased postoperative ventilator dependence (p = 0.03), vasopressor dependence (p = 0.02), and surgical pleural intervention (p = 0.02). In summary, post-OLT PPEf were associated with increased mortality. Ninety percent of these effusions were exudates by Light's criteria. Defining exudates using LDH only and incorporating cellular analysis, including neutrophils and RBCs, was useful in predicting morbidity.
{"title":"Implications of Pleural Fluid Composition in Persistent Pleural Effusion following Orthotopic Liver Transplant.","authors":"Bhavesh H Patel, Kathryn H Melamed, Holly Wilhalme, Gwenyth L Day, Tisha Wang, Joseph DiNorcia, Douglas Farmer, Vatche Agopian, Fady Kaldas, Igor Barjaktarevic","doi":"10.3390/medsci11010024","DOIUrl":"https://doi.org/10.3390/medsci11010024","url":null,"abstract":"<p><p>Persistent pleural effusions (PPEf) represent a known complication of orthotopic liver transplant (OLT). However, their clinical relevance is not well described. We evaluated the clinical, biochemical, and cellular characteristics of post-OLT PPEf and assessed their relationship with longitudinal outcomes. We performed a retrospective cohort study of OLT recipients between 2006 and 2015. Included patients had post-OLT PPEf, defined by effusion persisting >30 days after OLT and available pleural fluid analysis. PPEf were classified as transudates or exudates (Exud<sup>Light</sup>) by Light's criteria. Exudates were subclassified as those with elevated lactate dehydrogenase (Exud<sup>LDH</sup>) or elevated protein (Exud<sup>Prot</sup>). Cellular composition was classified as neutrophil- or lymphocyte-predominant. Of 1602 OLT patients, 124 (7.7%) had PPEf, of which 90.2% were Exud<sup>Light</sup>. Compared to all OLT recipients, PPEf patients had lower two-year survival (HR 1.63; <i>p</i> = 0.002). Among PPEf patients, one-year mortality was associated with pleural fluid RBC count (<i>p</i> = 0.03). While Exud<sup>Light</sup> and Exud<sup>Prot</sup> showed no association with outcomes, Exud<sup>LDH</sup> were associated with increased ventilator dependence (<i>p</i> = 0.03) and postoperative length of stay (<i>p</i> = 0.03). Neutrophil-predominant effusions were associated with increased postoperative ventilator dependence (<i>p</i> = 0.03), vasopressor dependence (<i>p</i> = 0.02), and surgical pleural intervention (<i>p</i> = 0.02). In summary, post-OLT PPEf were associated with increased mortality. Ninety percent of these effusions were exudates by Light's criteria. Defining exudates using LDH only and incorporating cellular analysis, including neutrophils and RBCs, was useful in predicting morbidity.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"11 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10058754/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9322146","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}